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autosomal dominant brachyolmia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant brachyolmia

MONDO:0007232

Also known as:brachyolmia type 3brachyolmia, autosomal dominantBCYM3

Overview

Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

GeneticsAutosomal dominant · TRPV4 (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Platyspondyly and Childhood-onset short-trunk short stature. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Proximal femoral metaphyseal irregularity, Sideways curvature of the spine (scoliosis), Short femoral neck

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

TRPV4 function has not been fully characterized.

Autosomal dominant brachyolmia is associated with mutations in the TRPV4 gene on chromosome 12.

GeneReviews

Clinical Guidance

In general, specific sets of TRPV4 pathogenic variants have been associated with either neuromuscular disorders or skeletal dysplasias. However, overlap phenotypes may occur , making genotype-phenotype correlations difficult . Moreover, pathogenic variants associated with TRPV4-related neuromuscular disease can cause any of the recognized subtypes, with different presentations even within families. Functional studies suggest that TRPV4 pathogenic variants associated with neuromuscular disorders and short-stature skeletal dysplasias cause a gain of channel function [, , , , , , ], whereas there are reports of both loss-of-function and gain-of-function features in pathogenic variants associated with familial digital arthropathy with brachydactyly . TRPV4-related neuromuscular disorders.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Neuromuscular Disorders

An autosomal dominant TRPV4-related neuromuscular disease should be suspected in individuals with the following clinical findings based on phenotype and family history.

Charcot-Marie-Tooth disease type 2, TRPV4-related (CMT2C)

Source: GeneReviews — "Autosomal Dominant TRPV4-Related Disorders"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal dominant brachyolmia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for autosomal dominant TRPV4-related disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with an autosomal dominant TRPV4-related neuromuscular disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 8a. Autosomal Dominant TRPV4-Related Neuromuscular Disorder: Recommended Surveillance

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant brachyolmia.

3 publications have been identified in PubMed for autosomal dominant brachyolmia. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Wang H (2025). [PMID: 41225599](https://pubmed.ncbi.nlm.nih.gov/41225599/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Güneş N (2025). [PMID: 39825918](https://pubmed.ncbi.nlm.nih.gov/39825918/). *Pediatric radiology*. [Epidemiology / Natural History]
Wang Q (2024). [PMID: 38612378](https://pubmed.ncbi.nlm.nih.gov/38612378/). *International journal of molecular sciences*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113500

Orphanet

European rare disease database

Orphanet:93304

GARD

Genetic and Rare Diseases Info Center

GARD:10429

Questions for Your Care Team

→Should I pursue genetic testing for TRPV4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

autosomal dominant brachyolmia

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Neuromuscular Disorders

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Autosomal dominant

Differential Diagnosis

Autosomal Dominant TRPV4-Related Neuromuscular Disorders

ATP7A

BICD2

BSCL2

DCTN1

DYNC1H1

Neurology

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Respiratory

Audiology

Skeletal

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Clinical Guidance

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